Department of Research, The Focus Foundation, Davidsonville, MD, USA.
Department of Human and Molecular Genetics, Florida International University, Miami, FL, USA.
Ultrasound Obstet Gynecol. 2023 Aug;62(2):266-272. doi: 10.1002/uog.26201.
The availability of cell-free (cf) DNA as a prenatal screening tool affords an opportunity for non-invasive identification of sex chromosome aneuploidy (SCA). The aims of this longitudinal study were to investigate the evolution and frequency of both invasive prenatal diagnostic testing, using amniocentesis and chorionic villus sampling (CVS), and the detection of SCA in cfDNA samples from a large unselected cohort in Northern Italy.
The results of genetic testing from CVS and amniotic fluid samples received from public and private centers in Italy from 1995 to 2021 were collected. Chromosomal analysis was performed by routine Q-banding karyotype. Regression analyses and descriptive statistics were used to determine population data trends regarding the frequency of prenatal diagnostic testing and the identification of SCA, and these were compared with the changes in indication for prenatal diagnostic tests and available screening options.
Over a period of 27 years, there were 13 939 526 recorded births and 231 227 invasive procedures were performed, resulting in the prenatal diagnosis of 933 SCAs. After the commercial introduction of cfDNA use in 2015, the frequency of invasive procedures decreased significantly (P = 0.03), while the frequency of prenatal SCA detection increased significantly (P = 0.007). Between 2016 and 2021, a high-risk cfDNA result was the indication for 31.4% of detected sex chromosome trisomies, second only to advanced maternal age.
Our findings suggest that the inclusion of SCA in prenatal cfDNA screening tests can increase the prenatal diagnosis of affected individuals. As the benefits of early ascertainment are increasingly recognized, it is essential that healthcare providers are equipped with comprehensive and evidence-based information regarding the associated phenotypic differences and the availability of targeted effective interventions to improve neurodevelopmental and health outcomes for affected individuals. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
游离（cf）DNA 作为产前筛查工具的可用性为非侵入性识别性染色体非整倍体（SCA）提供了机会。本纵向研究的目的是调查意大利北部一个大型未选择队列的 cfDNA 样本中侵袭性产前诊断检测（使用羊膜穿刺术和绒毛膜绒毛取样（CVS））的演变和频率，以及 SCA 的检测。
收集了意大利公立和私立中心从 1995 年至 2021 年收到的 CVS 和羊水样本的遗传检测结果。染色体分析采用常规 Q 带核型。回归分析和描述性统计用于确定产前诊断检测频率和 SCA 鉴定的人群数据趋势，并将这些趋势与产前诊断检测指征和可用筛查选项的变化进行比较。
在 27 年的时间里，记录了 13939526 次分娩，进行了 231227 次侵袭性操作，产前诊断了 933 例 SCA。在 2015 年商业化引入 cfDNA 后，侵袭性操作的频率显著下降（P=0.03），而产前 SCA 检测的频率显著增加（P=0.007）。在 2016 年至 2021 年期间，高风险 cfDNA 结果是检测到的性染色体三体的 31.4%的指征，仅次于高龄产妇。
我们的研究结果表明，将 SCA 纳入产前 cfDNA 筛查测试可以增加受影响个体的产前诊断。随着早期确定的益处越来越被认识到，至关重要的是，医疗保健提供者必须具备有关相关表型差异和靶向有效干预措施的全面和基于证据的信息，以改善受影响个体的神经发育和健康结果。©2023 国际妇产科超声学会。
